McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Am J Med Genet A. 2021 Sep;185(9):2633-2635. doi: 10.1002/ajmg.a.62239. Epub 2021 May 7.
Disease gene identification often relies on identifying multiple affected individuals with similar phenotypes and candidate variants in the same gene. Phenotypic and genomic data sharing tools have facilitated connections that led to novel disease gene discoveries and better characterization and recognition of rare diseases. Additionally, data sharing has evolved. From gene-based matches to variant-level information with increasing use of phenotypic information. We expect that these initiatives will continue to expand in the future affording clinicians, researchers, and most importantly, patients and their families faster and more comprehensive answers.
疾病基因的识别通常依赖于在相同基因中鉴定具有相似表型和候选变异的多个受影响个体。表型和基因组数据共享工具促进了联系，从而导致了新的疾病基因发现，并更好地描述和认识了罕见疾病。此外，数据共享也在不断发展。从基于基因的匹配到越来越多地使用表型信息的变体级信息。我们预计，这些举措在未来将继续扩大，为临床医生、研究人员、但最重要的是患者及其家属提供更快、更全面的答案。
